| Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.280 | 7 | 45068563 | missense variant | T/G | snv | 0.800 | 1.000 | 5 | 2003 | 2014 | |||||
|
1 | 1.000 | 0.280 | 7 | 45000364 | splice donor variant | G/A | snv | 0.700 | 1.000 | 5 | 1988 | 2008 | |||||
|
1 | 1.000 | 0.280 | 7 | 45038277 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2014 | |||
|
1 | 1.000 | 0.280 | 7 | 45000368 | splice region variant | GC/TT | mnv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.280 | 7 | 45075954 | frameshift variant | -/C | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.280 | 7 | 45069851 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.280 | 7 | 45064493 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 7 | 45000334 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 7 | 45038251 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 7 | 45038264 | stop gained | -/ATTTAAACGAGTATTTAAA | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 7 | 45000354 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 7 | 45063932 | frameshift variant | AA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 7 | 45064002 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 7 | 45068554 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 7 | 45069825 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.280 | 7 | 45075970 | frameshift variant | AG/- | delins | 0.700 | 0 |